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FLASH GENE

Symbol

PDE6A

contributors: shn/npt - updated : 20-12-2022

HGNC name	phosphodiesterase 6A, cGMP-specific, rod, alpha
HGNC id	8785

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	86.84 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	most active segment contained a 177-bp upstream sequence including apparent Crx and Nrl transcription factor binding sites (required for full transcriptional activity of the PDE6A gene)

MAPPING

cloned

Y

linked

status

provisional

Map	The PDE6A gene was mapped to 5q31.2-q34 by southern analysis of rodent-human somatic cell hybrids cen - D5S812 - D5S812 - PDE6A - D5S2015 - D5S2013 - qter
Authors	Pittler (1990)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000440 22 - 5645 NP_000431 100 860 retinal rod cells 2019 30998820 NM_001410788 20 - 5402 NP_001397717 - 779 - 2019 30998820

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N terminal cGMP binding domains
	a C terminal catalytic domain

HOMOLOGY

interspecies	ortholog to Pde6a, Rattus norvegicus
	ortholog to pde6a, Danio rerio
	ortholog to PDE6A, Pan troglodytes
	ortholog to Pde6a, Mus musculus

Homologene

FAMILY

cyclic nucleotide phosphodiesterase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	cGMP specific nucleotide phosphodiesterase, class VI, alpha subunit, rod photoreceptor
	is a subunit of a key phototransduction enzyme which participates in processes of transmission and amplification of the visual signal
	expression of PDE6 alpha in retina is essential for normal expression of PDE6 beta and PDE6 gama
	key effector enzyme of the phototransduction cascade in rods and cones
	catalytic PDE6A and PDE6B subunits are enzymatically equivalent
	binding of PDE6A farnesyl is essential to normal function of AIPL1 and its disruption is one of the mechanisms underlying Leber congenital amaurosis
	PDE6 holoenzyme consists of catalytic and inhibitory subunits in phototransduction cascade, and PDE6A and PDE6B code for the catalytic and PDE6G the inhibitory subunits in rods

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text

PDE

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	the phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits
	PDE6 hydrolyzes cGMP to GTP in photoreceptors during phototransduction

INTERACTION

DNA

RNA

small molecule

protein	PDE6 beta
	PDE6 gamma
	AIPL1 has been shown to bind the farnesylated PDE6A subunit

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP43

related resource

Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

canine model of arRP due to a PDE6A gene mutation shows puppies failing to develop normal rod-mediated ERG responses and reduced light-adapted a-wave amplitudes from an early age. Development of photoreceptor outer segments stopped, and rod cells were lost by apoptosis. Western blot analysis showed that the PDE6A mutation resulted in a lack of PDE6A protein and other PDE6 subunits